{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T23:50:34Z","timestamp":1790985034716,"version":"4.1.0"},"reference-count":66,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,6,26]],"date-time":"2007-06-26T00:00:00Z","timestamp":1182816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,7]]},"abstract":"<jats:p>Multiple congenital anomalies\/mental retardation syndromes due to genomic rearrangements involving chromosome 17p11.2 include deletion resulting in Smith\u2013Magenis syndrome and a reciprocal duplication of the same region resulting in the 17p11.2 duplication syndrome. We present the clinical and molecular analysis of an 8\u2010year\u2010old male with a dup(17p11.2p12) who was evaluated for unusual severity of the phenotype. Fluorescent <jats:italic>in situ <\/jats:italic>hybridization (FISH) analysis not only confirmed the 17p duplication but also identified an \u223c25% mosaicism for tetrasomy 17p11.2p12. Whole\u2010genome array comparative genomic hybridization (aCGH) was performed to identify other genomic rearrangements possibly contributing to the severe phenotype and the unusual features in the patient. The 17p duplication was determined by FISH and aCGH to encompass \u223c7.5 Mb, from <jats:italic>COX10 <\/jats:italic>to <jats:italic>KCNJ12<\/jats:italic>. An \u223c830 Kb deletion of 17q11.2q12, including exon 1 of an amiloride\u2010sensitive cation channel neuronal gene, <jats:italic>ACCN1<\/jats:italic>, was also identified by aCGH; breakpoints of the deletion were confirmed by FISH. Sequencing the non\u2010deleted allele of <jats:italic>ACCN1 <\/jats:italic>did not show any mutations. Western analysis of human tissue\u2010specific proteins revealed that <jats:italic>ACCN1 <\/jats:italic>is expressed not only in the brain as previously reported but also in all tissues examined, including heart, liver, kidneys, and spleen. The large\u2010sized 17p11.2p12 duplication, partial triplication of the same region, and the 17q11.2q12 deletion create a complex chromosome 17 rearrangement that has not been previously identified. This is the first case of triplication reported for this chromosome. Our study emphasizes the utility of whole\u2010genome analysis for known cases with deletion\/duplication syndromes with unusual or severe phenotypes.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00831.x","type":"journal-article","created":{"date-parts":[[2007,6,26]],"date-time":"2007-06-26T07:20:27Z","timestamp":1182842427000},"page":"47-58","source":"Crossref","is-referenced-by-count":16,"title":["17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome"],"prefix":"10.1111","volume":"72","author":[{"given":"S","family":"Girirajan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SR","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JY","family":"Garbern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Nowak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Hatchwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SH","family":"Elsea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,6,26]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2006.09.027"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90613-4"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90058-X"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240303"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00048-9"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30461"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1126"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1187-6"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031211"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000228215.32110.89"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01596.x"},{"key":"e_1_2_6_13_2","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/BF00277633","article-title":"Partial duplication of 17p. 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